Acral peeling skin syndrome associated with a novel CSTA gene mutation

Summary Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been...

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Veröffentlicht in:Clinical and experimental dermatology 2016-06, Vol.41 (4), p.394-398
Hauptverfasser: Muttardi, K., Nitoiu, D., Kelsell, D. P., O'Toole, E. A., Batta, K.
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Sprache:eng
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Zusammenfassung:Summary Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been linked with APSS and exfoliative ichthyosis. We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA.
ISSN:0307-6938
1365-2230
DOI:10.1111/ced.12777